| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary Chronic Pancreatitis (PHKB) | Hereditary Chronic Pancreatitis | Autosomal Recessive | 16q12.1 | Substitution | PHKB | c.2327G>A | p.Arg776His | Missense | Cheema et al, 2023/2023 |
